Conditions / Syndrome
Boucher-Neuhauser syndrome
info · Syndrome
A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
Signs and symptoms
- Hypogonadotropic hypogonadism
- Cerebellar atrophy
- Retinal pigment epithelial atrophy
- Hyporeflexia
- Decreased circulating luteinizing hormone level
- Decreased circulating follicle stimulating hormone concentration
- Dysdiadochokinesis
- Decreased serum testosterone concentration
- Primary amenorrhea
- Gait ataxia
Also known as: ataxia-hypogonadism-choroidal dystrophy syndrome